BIOMED-2标准化IG/TCR基因重排克隆性分析系统在原发性中枢神经系统淋巴瘤诊断中的应用

目的探讨BIOMED-2标准化基因重排克隆性分析系统对原发性中枢神经系统淋巴瘤(primary central nervous system lymphoma,PCNSL)的检出率及应用价值。方法采用BIOMED-2系统引物对29例PCNSL、10例淋巴结反应性增生病变,进行Ig/TCR基因重排的克隆性分析。结果 29例PCNSL中,BIOMED-2系统引物组合检测出27例克隆性重排,其中Ig克隆性重排26例(B细胞性淋巴瘤),另1例检测出TCR克隆性重排(T细胞性淋巴瘤),检出率为93.1%,10例淋巴结反应性增生病变均未见克隆性重排,其检测特异性为100%。结论 PCNSL是一种少见的高侵袭性结外非霍奇金淋巴瘤,利用BIOMED-2系统的Ig/TCR基因重排分析系统可对PCNSL的定性及分类提供客观性手段。     

Ig及TCR克隆性重排在Castleman病诊断中的应用

目的探讨Castleman病克隆性重排检测及其在鉴别诊断中的应用。方法收集组织病理学确诊的Castleman病38例,利用根据BIOMED-2引物体系设计的Identi Clone系列淋巴瘤基因重排检测试剂盒及Genescanning法进行免疫球蛋白(Ig)和T细胞受体(TCR)基因克隆性重排检测及结果分析。结果 38例CD病理组织学分型为透明血管型25例,浆细胞型9例及混合型4例。根据临床病变累及部位为局限型21例,多中心型17例。克隆性分析结果,10例CD克隆性重排阳性,其中6例为Ig克隆性重排,2例为TCR基因重排,2例为Ig和TCR基因双重排。2例MCD为Ig H和/或Igk单克隆重排,随访13及21个月后发展为滤泡性淋巴瘤及弥漫大B细胞淋巴瘤。结论大多数CD的淋巴细胞为多克隆性起源,Ig和/或TCR基因发生克隆性重排提示单克隆性增生具有恶性转化趋势和潜能,对推测预后有一定帮助。     

BIOMED-2聚合酶链反应Ig基因重排对成熟非霍奇金B细胞淋巴瘤诊断的价值

目的 探讨BIOMED-2聚合酶链反应(PCR)在成熟非霍奇金B细胞淋巴瘤(B-NHL)诊断中的价值.方法 收集成熟B-NHL组织标本72例,其中弥漫性大B细胞淋巴瘤37例,黏膜相关淋巴组织结外边缘区淋巴瘤35例为研究对象,并以反应性增生病变25例作为对照.提取以上组织的DNA,并以PCR来检测其完整性和可扩增性,选取质量合格的DNA.85.6%(83/97)的样品DNA长度>300 bp,其中60例成熟B-NHL和23例反应性增生可用于BIOMED-2 PCR检测免疫球蛋白重链(IgH)和kappa轻链(IgK)基因重排的克隆性.结果 利用BIOMED-2 PCR检测的60例成熟B-NHL中,57例存在Ig基因的克隆性重排,其检测敏感性为95%,23例反应性增生病例中未出现Ig基因的克隆性重排,其检测特异性为100%.结论 BIOMED-2 PCR适用于石蜡包埋组织.该方法具有很高的敏感性和特异性,对成熟B-NHL诊断的辅助价值很高.     

T细胞性淋巴瘤诊断中TCR基因重排检测的应用

目的：探讨T细胞受体( T cell receptors, TCR)基因重排检测对T细胞性淋巴瘤诊断的价值。方法收集T细胞性淋巴瘤30例和淋巴反应性增生组织30例,提取DNA,应用BIOMED-2引物系统中的56条引物进行PCR扩增,核酸分子异源双链凝胶电泳分析结果。结果30例T细胞性淋巴瘤标本中TCRβ、TCRγ、TCRδ的检出率分别为83．3%(25/30)、93．3%(28/30)、13．3%(4/30),三者联合检测的检出率为96．7%(29/30),30例淋巴反应性增生组织中均未检测出TCR基因重排。结论利用BIOMED-2引物系统检测TCR 基因重排可作为T细胞性淋巴瘤的辅助诊断工具。     

小细胞性非特指外周T细胞淋巴瘤病理形态和免疫表型分析

目的 探讨小细胞性非特指外周T细胞淋巴瘤(PTCL,NOS)的临床病理与免疫表型及其病理诊断和鉴别诊断.方法 对5例小细胞性PTCL,NOS进行临床病理回顾性研究和随访,免疫表型检测(SP和EnVision法),以及EBER原位杂交和T细胞受体(TCR)基因重排分析.结果 5例均为男性,平均年龄52.6岁.中位病程1个月.5例中3例为临床Ⅳ期,2例为临床Ⅲ期.4例有全身浅表淋巴结及脾脏肿大,1例有肝肿大.2例有浆膜腔积液.行骨髓检查的4例中,3例有肿瘤累及.1例有外周血自细胞总数和淋巴细胞分类计数升高.主要病理改变为淋巴结结构的破坏和单一形态的小淋巴细胞弥漫性浸润,4例可见少数大的异形细胞散在分布,2例见小血管增生现象.5例之肿瘤细胞均表达两种以上T细胞分化抗原和CD43,表达CD99(3/4),均不表达CD20、末端脱氧核苷酸转移酶、CD56和粒酶B.Ki-67指数为5%-15%.4例行TCR基因重排分析,均存在TCRy基因克隆性重排,1例检出TCRβ基因克隆性重排.EBER原位杂交检测均为阴性.获得3例随访资料,且患者均死亡,平均生存时间21.7个月.结论 小细胞性PTCL,NOS少见,呈高临床分期,预后差,组织形态表现为惰性淋巴瘤.     

回肠EB病毒阳性弥漫性大B细胞淋巴瘤合并骨骼肌T细胞单克隆增生一例

报道1例回肠EB病毒阳性弥漫性大B细胞淋巴瘤(diffuse large B cell lymphoma, DLBCL)合并骨骼肌T细胞单克隆性增生, 特别是对骨骼肌病变做了相关描述。股外侧肌活检示肌束膜高度增生、小血管增生;肌周筋膜及肌束内T淋巴细胞弥漫浸润肌纤维并围绕血管壁, 分子病理示T细胞受体β克隆性基因重排, 但Ki-67阳性指数不高且临床无外周T细胞淋巴瘤的证据。回肠穿孔处肠壁内见免疫母细胞样转化和R-S细胞样转化的大细胞弥漫浸润肠壁和肠周脂肪。原位杂交示EB病毒编码的小RNA(EBER)强阳性, Ig基因重排示IgH-FR、Igκ克隆性基因重排, 最终考虑诊断为回肠EB病毒阳性DLBCL合并骨骼肌T细胞单克隆性增生。     

B淋巴细胞增生性疑难病例中IgH基因克隆性重排的分析

目的 探讨IgH基因克隆性重排对B淋巴细胞增生性疑难病变的辅助诊断价值.方法 检测77例B淋巴细胞增生性疑难病例中IgH基因的克隆性重排情况,均采用BIOMED-2系统IgH克隆性试剂盒中FR1、FR2、FR3三组家族引物进行PCR及聚丙烯酰胺凝胶电泳,硝酸银染色后观察,并对照最终病理诊断进行分析.结果 77例病变的最终病理诊断:B淋巴细胞反应性增生12例,不能排除B淋巴细胞不典型增生或淋巴瘤20例,B细胞性淋巴瘤45例.三组中FR1、FR2和FR3至少有一个为阳性的比值分别为2/12、11/20(55%)和36/45(80%).B细胞性淋巴瘤中,FR1、FR2和FR3的阳性率分别为60%(27/45)、60%(27/45)、56%(25/45),其类型有边缘区B细胞性淋巴瘤20例(其中黏膜相关淋巴组织型结外边缘区淋巴瘤18例,结内边缘区淋巴瘤2例),弥漫性大B细胞淋巴瘤7例,滤泡性淋巴瘤7例,套细胞性淋巴瘤1例,Burkitt淋巴瘤1例,浆细胞瘤4例,不能分型5例.FR1、FR2和FR3三者检测均为阴性但仍诊断为淋巴瘤9例(20%),其中1例后来出现肝脏B细胞淋巴瘤.对IgH基因重排阳性的B淋巴细胞反应性增生和不典型增生14例的随访结果,4例重新取活检后诊断为B细胞性淋巴瘤,其中3例IgH基因重排检测为阳性.结论 联合检测IgH基因FR1、FR2和FR3克隆性重排对B淋巴细胞增生性疑难病变诊断有重要的辅助价值;对形态改变和免疫表型诊断淋巴瘤依据不足而基因重排阳性者,重取活检或随访有一定价值;对阴性病例有必要补充IgH基因重排及IgK和IgL基因重排的检测以提高检测敏感性.     

BIOMED-2系统引物用于检测T细胞淋巴瘤石蜡样本T细胞受体γ基因重排的研究

目的 了解BIOMED-2系统T细胞受体(TCR)γ引物组合对T细胞淋巴瘤的常规石蜡包埋组织样本中TCR基因重排的检出情况及其实用性.方法 用酚/氯仿法提取55例各种组织类型的T细胞淋巴瘤石蜡包埋组织样本的DNA并通过扩增看家基因β-globin检测其质量,利用BIOMED-2系统TCR-γ引物组合和TCR-γ基因通用型引物(TVG/TJX)对55例进行TCR基因重排检测,比较二者的检出率并进行统计学分析.结果 BIOMED-2系统TCR-γ引物组合和TCRγ基因通用型引物(TVG/TJX)的TCR基因重排检出率分别为76.4%和60.0%,前者高于后者,二者的差异无统计学意义(P>0.05).结论 BIOMED-2系统TCRγ引物组合适用于本组T细胞淋巴瘤石蜡包埋组织样本的TCR基因重排检测.     

浆膜腔积液中的淋巴造血组织肿瘤细胞病理诊断分析

目的 探讨用细胞病理方法诊断浆膜腔积液中的淋巴造血组织肿瘤的可行性和准确性,避免漏诊和误诊,评估用细胞块切片进行免疫细胞化学染色的作用.方法 收集通过组织活检证实的伴发浆膜腔积液的淋巴造血组织肿瘤33例,对其临床特点、细胞形态、免疫表型特征等进行分析,另外1例结外鼻型NK/T细胞淋巴瘤进行EBER原位杂交检测,3例T淋巴母细胞白血病/淋巴瘤、2例弥漫性大B细胞淋巴瘤(DLBCL)和2例伯基特淋巴瘤进行了基因重排分析.结果 累及浆膜腔的33例淋巴造血组织肿瘤包括T淋巴母细胞白血病/淋巴瘤12例;成熟B细胞肿瘤16例,其中DLBCL 9例,伯基特淋巴瘤2例,浆细胞骨髓瘤2例,慢性淋巴细胞白血病/小B细胞淋巴瘤2例,套细胞淋巴瘤1例;成熟T细胞和NK细胞肿瘤3例,其中血管免疫母细胞性T细胞淋巴瘤、结外鼻型NK/T细胞淋巴瘤、T细胞幼淋巴细胞性白血病各1例;粒细胞肉瘤和肥大细胞肉瘤各1例.8例DLBCL、2例浆细胞骨髓瘤、慢性淋巴细胞白血病/小B细胞淋巴瘤、1例套细胞淋巴瘤、T淋巴母细胞白血病/淋巴瘤、血管免疫母细胞性T细胞淋巴瘤、肥大细胞肉瘤共16例为复发病例,其余17例均以浆膜腔积液为首发表现并由细胞病理初诊.所有病例细胞病理学诊断均与组织病理学诊断结果相符.结论 结合临床特点、细胞形态、免疫表型、原位杂交和基因重排等检测,用细胞病理方法可以对浆膜腔积液中的淋巴造血组织肿瘤,特别是复发病例进行明确诊断和鉴别诊断.     

胃T细胞淋巴瘤临床病理观察

目的 探讨胃T细胞淋巴瘤的临床病理学特点.方法 收集7例胃T细胞淋巴瘤病例标本,对其进行了临床病理分析、免疫组织化学检测、EBER原位杂交检测及T细胞受体(TCR)基因重排检测.结果 7例病例中6例为男性,1例为女性,平均发病年龄为45岁.6例可获得资料的病例中,1例有长期腹泻史,5例有低蛋白血症.组织学上,7例标本中,有5例表现为肿瘤细胞体积较大而不一致,2例表现为大小一致的中等细胞.1例病例可见肿瘤细胞浸润腺上皮.所有病例的肿瘤组织均不表达CD20及CD79a.7例病例中,各有6例表达CD3及T细胞胞质内抗原,各有4例表达CD5、βF-1及CD30,有3例表达CDM,各有1例病例表达CD8、CD56、问变性淋巴瘤激酶及粒酶B.7例病例肿瘤细胞EBER原位杂交检测均为阴性且都存在TCR基因克隆性重排.结论 胃T细胞淋巴瘤是一种少见的恶性淋巴瘤,具有独特的临床病理特点.     

原发性肾小球疾病和高血压肾病患者血清Ald水平比较

目的：比较原发性肾小球疾病和高血压肾病所致慢性肾脏疾病（CKD）患者随疾病进展血清醛固酮（Ald）水平变化的异同。方法：此两种病因导致不同程度慢性肾功能不全而未开始肾替代治疗的CKD患者共95例，依据病因分成两组，比较这两组患者的血浆肾素活性（PRA）、血管紧张素Ⅱ（AngⅡ）和血清Ald浓度以及电解质水平；PRA、AngⅡ和Ald的检测采用放射免疫分析。结果：高血压肾病所致CKD患者血清Ald水平显著高于原发性肾小球疾病所致CKD患者（P〈0．01），经肌酐清除率（Ccr）修正后高血压肾病所致CKD患者血清Ald水平仍显著高于原发性肾小球疾病所致CKD患者（P〈0．05）。结论：在肾功能可比较的情况下，高血压肾病所致CKD患者较原发性肾小球疾病所致CKD患者血清Ald水平更容易升高。     

Treatment of asthma in pre-school children with inhalation of terbutaline in Turbuhaler compared with Nebuhaler

The aim of this study was to evaluate the efficacy, safety and preference of pre-school children with regard to two different devices for treatment of bronchial asthma with terbutaline. Turbuhaler, a powder inhaler preloaded with pure terbutaline for inhalation, was compared with a pressurized metered dose inhaler, attached to a Nebuhaler. The study had an open, cross-over randomized design. Each treatment period consisted of 2 weeks. Diary cards were filled in every morning and evening by the parents regarding PEF, asthma symptoms, extra inhalations of terbutaline, and side effects. Twenty-one children (mean age 3.9 years) were included in the study. A highly significant (P less than 0.001) increase in peak expiratory flow (PEF) was obtained after inhalation with both devices. The PEF values in the mornings after inhalation of terbutaline with Turbuhaler were significantly higher (P = 0.046) than those with Nebuhaler. Further, the PEF baseline values in the evenings before inhalation were also significantly higher (P = 0.03) with Turbuhaler. No difference was found in asthma symptoms and extra medication between the two devices. Side effects were mild and few with both devices. The parents found Turbuhaler easier to handle and 19 of 21 preferred this device for future use.     

Correlation of in situ hybridization with histology and viral culture in patients with acquired immunodeficiency syndrome with cytomegalovirus colitis

Endoscopic colonic biopsy specimens from 34 patients with acquired immunodeficiency syndrome and six patients without acquired immunodeficiency syndrome (3 were human immunodeficiency virus-seropositive and 3 were human immunodeficiency virus-seronegative) were examined by in situ hybridization for evidence of cytomegalovirus colitis and the results were compared with histologic examinations and viral cultures. In situ hybridization was positive in 22 of 25 patients with acquired immunodeficiency syndrome with histologic evidence of cytomegalovirus colitis. By our interpretation, 15 patients without cytomegalovirus colitis histologically all had negative hybridization studies. No correlation was found between in situ hybridization and viral culture results. In situ hybridization is a useful confirmatory test when the histologic changes are suspicious for cytomegalovirus but not considered diagnostic; it will only rarely demonstrate staining in a case considered negative histologically.     

Associations of paternal involvement in disease management with maternal and family outcomes in families with children with chronic illness

OBJECTIVE: The role of fathers in pediatric disease management and its associations with family functioning have rarely been the focus of empirical study. In this study, we used the Dads Active Disease Support scale (DADS), a measure of the amount and helpfulness of paternal involvement in pediatric disease management, to explore the association between father involvement and other aspects of family functioning. METHOD: A sample of 190 heterosexual couples completed the DADS and measures of maternal, marital, and family functioning. RESULTS: Maternal report of higher ratings on DADS Helpfulness scale was associated with fewer self-reported maternal psychiatric symptoms and less perceived impact of the disease on family functioning. Both mothers' and fathers' reports indicated that more paternal involvement was related to more favorable outcomes in marital satisfaction and family functioning. CONCLUSIONS: More paternal involvement in disease management was associated with healthier maternal, marital, and family functioning. Longitudinal studies are needed to determine whether paternal involvement is likely to be a fruitful target for psychological intervention.